ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)

dbSNP: rs753355844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001340284 SCV001534085 likely pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2022-11-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 471 of the HGSNAT protein (p.Glu471Gln). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Glu471 amino acid residue in HGSNAT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17033958, 18024218, 19479962, 20583299). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1037171). This variant has not been reported in the literature in individuals affected with HGSNAT-related conditions. This variant is not present in population databases (gnomAD no frequency).
Natera, Inc. RCV001831060 SCV002083315 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-07-25 no assertion criteria provided clinical testing

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